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Pathology Mendelian Disorders: Single-Gene Defects 3e9f59e8

Mutations in COL 4A5 gene manifests as -

A
Alport's syndrome
B
HNPCC
C
Good pasture
D
Vitiligo
High-Yield Explanation
Ans. is 'a' i.e., Alport's syndrome o Manifestations of Alport's syndrome are due to abnormal a} (COL4A3), OC4 (COL4A4), or a. (COL4A5).o This is due to mutations of:i) COL4 A5 in classic X-linked formii) COL4A3 or COL4A4 in autosomal forms.

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